Concepedia

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

Liesbeth E. Siderius, Ben C.J. Hamel, Hans van Bokhoven, Frank de Jager, Bellinda van den Helm, Hannie Kremer, Josien A. Heineman‐de Boer, Hans‐Hilger Ropers, Edwin C.M. Mariman

American Journal of Medical Genetics · 1999 · 62 citations · 20 references

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Abstract

A family is described in which X-linked mild to borderline mental retardation (MR) is associated with cleft lip/palate. Linkage analysis showed a maximum LOD score of Z=2.78 at straight theta=0.0 for the DXS441 locus with flanking markers DXS337 and DXS990, defining the region Xp11.3-q21.3 with a linkage interval of 25 cM.

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